Canonical Allele Identifier: CA342755938

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265358T>A (hg19) ; chr1:g.155295567T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295567T>A , CM000663.2:g.155295567T>A	GRCh38
NC_000001.10:g.155265358T>A , CM000663.1:g.155265358T>A	GRCh37
NC_000001.9:g.153531982T>A	NCBI36
NG_011677.1:g.10868A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.377A>T MANE Select	ENSP00000339933.4:p.Tyr126Phe
ENST00000434082.3:c.185A>T	ENSP00000398037.3:p.Tyr62Phe
ENST00000342741.4:c.377A>T	ENSP00000339933.4:p.Tyr126Phe
ENST00000392414.7:c.284A>T	ENSP00000376214.3:p.Tyr95Phe
ENST00000434082.2:c.282A>T	ENSP00000398037.2:n.282A>T
NM_000298.5:c.377A>T	NP_000289.1:p.Tyr126Phe
NM_181871.3:c.284A>T	NP_870986.1:p.Tyr95Phe
XM_005245266.3:c.536A>T	XP_005245323.1:p.Tyr179Phe
XM_006711386.2:c.185A>T	XP_006711449.1:p.Tyr62Phe
XM_011509639.1:c.536A>T	XP_011507941.1:p.Tyr179Phe
XM_011509640.1:c.185A>T	XP_011507942.1:p.Tyr62Phe
NM_000298.6:c.377A>T MANE Select	NP_000289.1:p.Tyr126Phe
XM_006711386.4:c.185A>T	XP_006711449.1:p.Tyr62Phe
XM_011509640.3:c.185A>T	XP_011507942.1:p.Tyr62Phe
XM_017001493.1:c.377A>T	XP_016856982.1:p.Tyr126Phe
NM_181871.4:c.284A>T	NP_870986.1:p.Tyr95Phe